12 | g.5045894dup | CA2832560798 | KCNA5 | c.1747dup (p.Leu583ProfsTer5)
| |
12 | g.5045894del | CA2617209928 | KCNA5 | c.1747del (p.Leu583Ter)
| gnomAD v4 |
12 | g.5045893C>A | CA478095905 | KCNA5 | c.1746C>A (p.Pro582=)
| ClinVar |
12 | g.5045893C>G | CA478095906 | KCNA5 | c.1746C>G (p.Pro582=)
| gnomAD v4 |
12 | g.5045893C>T | CA478095907 | KCNA5 | c.1746C>T (p.Pro582=)
| ClinVar gnomAD v4 |
12 | g.5045894C>A | CA383467130 | KCNA5 | c.1747C>A (p.Leu583Ile)
| gnomAD v4 |
12 | g.5045894C>G | CA383467131 | KCNA5 | c.1747C>G (p.Leu583Val)
| |
12 | g.5045894C>T | CA478095908 | KCNA5 | c.1747C>T (p.Leu583=)
| |
12 | g.5045895T>A | CA383467132 | KCNA5 | c.1748T>A (p.Leu583Gln)
| |
12 | g.5045895T>C | CA383467133 | KCNA5 | c.1748T>C (p.Leu583Pro)
| |
12 | g.5045895T>G | CA383467134 | KCNA5 | c.1748T>G (p.Leu583Arg)
| |
12 | g.5045896A= | CA2013431453 | KCNA5 | c.1749A= (p.Leu583=)
| |
12 | g.5045896A>C | CA478095914 | KCNA5 | c.1749A>C (p.Leu583=)
| |
12 | g.5045896A>G | CA478095916 | KCNA5 | c.1749A>G (p.Leu583=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045896A>T | CA478095917 | KCNA5 | c.1749A>T (p.Leu583=)
| dbSNP |
12 | g.5045897G>A | CA231869366 | KCNA5 | c.1750G>A (p.Glu584Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045897G>C | CA6399941 | KCNA5 | c.1750G>C (p.Glu584Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045897G= | CA2013431454 | KCNA5 | c.1750G= (p.Glu584=)
| |
12 | g.5045897G>T | CA383467135 | KCNA5 | c.1750G>T (p.Glu584Ter)
| gnomAD v4 |
12 | g.5045898A>C | CA383467136 | KCNA5 | c.1751A>C (p.Glu584Ala)
| |
12 | g.5045898A>G | CA383467137 | KCNA5 | c.1751A>G (p.Glu584Gly)
| |
12 | g.5045898A>T | CA383467138 | KCNA5 | c.1751A>T (p.Glu584Val)
| |
12 | g.5045899G>A | CA478095918 | KCNA5 | c.1752G>A (p.Glu584=)
| COSMIC |
12 | g.5045899G>C | CA383467139 | KCNA5 | c.1752G>C (p.Glu584Asp)
| |
12 | g.5045899G>T | CA383467140 | KCNA5 | c.1752G>T (p.Glu584Asp)
| |
12 | g.5045900A>C | CA383467141 | KCNA5 | c.1753A>C (p.Lys585Gln)
| |
12 | g.5045900A>G | CA383467142 | KCNA5 | c.1753A>G (p.Lys585Glu)
| |
12 | g.5045900A>T | CA383467143 | KCNA5 | c.1753A>T (p.Lys585Ter)
| |
12 | g.5045901A>C | CA383467144 | KCNA5 | c.1754A>C (p.Lys585Thr)
| |
12 | g.5045901A>G | CA383467145 | KCNA5 | c.1754A>G (p.Lys585Arg)
| COSMIC |
12 | g.5045901A>T | CA383467146 | KCNA5 | c.1754A>T (p.Lys585Met)
| |
12 | g.5045902G>A | CA478095925 | KCNA5 | c.1755G>A (p.Lys585=)
| gnomAD v4 |
12 | g.5045902G>C | CA383467147 | KCNA5 | c.1755G>C (p.Lys585Asn)
| ClinVar gnomAD v4 |
12 | g.5045902G>T | CA383467148 | KCNA5 | c.1755G>T (p.Lys585Asn)
| gnomAD v4 |
12 | g.5045903T>A | CA383467150 | KCNA5 | c.1756T>A (p.Cys586Ser)
| |
12 | g.5045903T>C | CA383467151 | KCNA5 | c.1756T>C (p.Cys586Arg)
| |
12 | g.5045903T>G | CA383467149 | KCNA5 | c.1756T>G (p.Cys586Gly)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045903T= | CA2013431455 | KCNA5 | c.1756T= (p.Cys586=)
| |
12 | g.5045904G>A | CA383467152 | KCNA5 | c.1757G>A (p.Cys586Tyr)
| |
12 | g.5045904G>C | CA383467153 | KCNA5 | c.1757G>C (p.Cys586Ser)
| |
12 | g.5045904G>T | CA383467154 | KCNA5 | c.1757G>T (p.Cys586Phe)
| |
12 | g.5045905T>A | CA383467155 | KCNA5 | c.1758T>A (p.Cys586Ter)
| |
12 | g.5045905T>C | CA478095926 | KCNA5 | c.1758T>C (p.Cys586=)
| |
12 | g.5045905T>G | CA383467156 | KCNA5 | c.1758T>G (p.Cys586Trp)
| |
12 | g.5045906A>C | CA383467157 | KCNA5 | c.1759A>C (p.Asn587His)
| |
12 | g.5045906A>G | CA383467158 | KCNA5 | c.1759A>G (p.Asn587Asp)
| |
12 | g.5045906A>T | CA383467159 | KCNA5 | c.1759A>T (p.Asn587Tyr)
| |
12 | g.5045907A>C | CA383467160 | KCNA5 | c.1760A>C (p.Asn587Thr)
| |
12 | g.5045907A>G | CA383467161 | KCNA5 | c.1760A>G (p.Asn587Ser)
| |
12 | g.5045907A>T | CA383467162 | KCNA5 | c.1760A>T (p.Asn587Ile)
| |
12 | g.5045908C>A | CA383467163 | KCNA5 | c.1761C>A (p.Asn587Lys)
| gnomAD v4 |
12 | g.5045908C= | CA2013431456 | KCNA5 | c.1761C= (p.Asn587=)
| |
12 | g.5045908C>G | CA383467164 | KCNA5 | c.1761C>G (p.Asn587Lys)
| dbSNP |
12 | g.5045908C>T | CA478095930 | KCNA5 | c.1761C>T (p.Asn587=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045909G>A | CA383467165 | KCNA5 | c.1762G>A (p.Val588Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045909G>C | CA6399942 | KCNA5 | c.1762G>C (p.Val588Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045909G= | CA2013431457 | KCNA5 | c.1762G= (p.Val588=)
| |
12 | g.5045909G>T | CA383467166 | KCNA5 | c.1762G>T (p.Val588Phe)
| |
12 | g.5045910T>A | CA383467167 | KCNA5 | c.1763T>A (p.Val588Asp)
| gnomAD v4 |
12 | g.5045910T>C | CA383467168 | KCNA5 | c.1763T>C (p.Val588Ala)
| |
12 | g.5045910T>G | CA383467169 | KCNA5 | c.1763T>G (p.Val588Gly)
| |
12 | g.5045911C>A | CA478095936 | KCNA5 | c.1764C>A (p.Val588=)
| |
12 | g.5045911C= | CA2013431458 | KCNA5 | c.1764C= (p.Val588=)
| |
12 | g.5045911C>G | CA478095937 | KCNA5 | c.1764C>G (p.Val588=)
| dbSNP COSMIC |
12 | g.5045911C>T | CA478095938 | KCNA5 | c.1764C>T (p.Val588=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045912A>C | CA383467170 | KCNA5 | c.1765A>C (p.Lys589Gln)
| |
12 | g.5045912A>G | CA383467171 | KCNA5 | c.1765A>G (p.Lys589Glu)
| |
12 | g.5045912A>T | CA383467172 | KCNA5 | c.1765A>T (p.Lys589Ter)
| |
12 | g.5045913A>C | CA383467173 | KCNA5 | c.1766A>C (p.Lys589Thr)
| |
12 | g.5045913A>G | CA383467174 | KCNA5 | c.1766A>G (p.Lys589Arg)
| |
12 | g.5045913A>T | CA383467175 | KCNA5 | c.1766A>T (p.Lys589Met)
| |
12 | g.5045914G>A | CA478095941 | KCNA5 | c.1767G>A (p.Lys589=)
| |
12 | g.5045914G>C | CA383467176 | KCNA5 | c.1767G>C (p.Lys589Asn)
| |
12 | g.5045914G>T | CA383467177 | KCNA5 | c.1767G>T (p.Lys589Asn)
| |
12 | g.5045915G>A | CA383467179 | KCNA5 | c.1768G>A (p.Ala590Thr)
| |
12 | g.5045915G>C | CA383467180 | KCNA5 | c.1768G>C (p.Ala590Pro)
| |
12 | g.5045915G>T | CA383467178 | KCNA5 | c.1768G>T (p.Ala590Ser)
| |
12 | g.5045916C>A | CA383467182 | KCNA5 | c.1769C>A (p.Ala590Asp)
| |
12 | g.5045916C>G | CA383467181 | KCNA5 | c.1769C>G (p.Ala590Gly)
| |
12 | g.5045916C>T | CA383467183 | KCNA5 | c.1769C>T (p.Ala590Val)
| ClinVar gnomAD v4 |
12 | g.5045917del | CA2841912345 | KCNA5 | c.1770del (p.Lys591ArgfsTer?)
| |
12 | g.5045917C>A | CA478095944 | KCNA5 | c.1770C>A (p.Ala590=)
| |
12 | g.5045917C>G | CA478095943 | KCNA5 | c.1770C>G (p.Ala590=)
| |
12 | g.5045917C>T | CA478095945 | KCNA5 | c.1770C>T (p.Ala590=)
| |
12 | g.5045918A>C | CA383467184 | KCNA5 | c.1771A>C (p.Lys591Gln)
| |
12 | g.5045918A>G | CA383467186 | KCNA5 | c.1771A>G (p.Lys591Glu)
| |
12 | g.5045918A>T | CA383467185 | KCNA5 | c.1771A>T (p.Lys591Ter)
| |
12 | g.5045919A>C | CA383467187 | KCNA5 | c.1772A>C (p.Lys591Thr)
| |
12 | g.5045919A>G | CA383467188 | KCNA5 | c.1772A>G (p.Lys591Arg)
| |
12 | g.5045919A>T | CA383467189 | KCNA5 | c.1772A>T (p.Lys591Met)
| |
12 | g.5045920G>A | CA478095950 | KCNA5 | c.1773G>A (p.Lys591=)
| |
12 | g.5045920G>C | CA383467190 | KCNA5 | c.1773G>C (p.Lys591Asn)
| gnomAD v4 |
12 | g.5045920G>T | CA383467191 | KCNA5 | c.1773G>T (p.Lys591Asn)
| COSMIC |
12 | g.5045921A>C | CA383467192 | KCNA5 | c.1774A>C (p.Ser592Arg)
| |
12 | g.5045921A>G | CA383467193 | KCNA5 | c.1774A>G (p.Ser592Gly)
| gnomAD v4 |
12 | g.5045921A>T | CA383467194 | KCNA5 | c.1774A>T (p.Ser592Cys)
| |
12 | g.5045922G>A | CA6399943 | KCNA5 | c.1775G>A (p.Ser592Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045922G>C | CA383467195 | KCNA5 | c.1775G>C (p.Ser592Thr)
| |
12 | g.5045922G= | CA2013431459 | KCNA5 | c.1775G= (p.Ser592=)
| |
12 | g.5045922G>T | CA383467196 | KCNA5 | c.1775G>T (p.Ser592Ile)
| |
12 | g.5045923C>A | CA383467198 | KCNA5 | c.1776C>A (p.Ser592Arg)
| |
12 | g.5045923C= | CA2013431460 | KCNA5 | c.1776C= (p.Ser592=)
| |
12 | g.5045923C>G | CA383467197 | KCNA5 | c.1776C>G (p.Ser592Arg)
| gnomAD v4 |
12 | g.5045923C>T | CA6399944 | KCNA5 | c.1776C>T (p.Ser592=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045924A>C | CA383467199 | KCNA5 | c.1777A>C (p.Asn593His)
| |
12 | g.5045924A>G | CA383467200 | KCNA5 | c.1777A>G (p.Asn593Asp)
| gnomAD v4 |
12 | g.5045924A>T | CA383467201 | KCNA5 | c.1777A>T (p.Asn593Tyr)
| |
12 | g.5045925A>C | CA383467202 | KCNA5 | c.1778A>C (p.Asn593Thr)
| |
12 | g.5045925A>G | CA383467203 | KCNA5 | c.1778A>G (p.Asn593Ser)
| gnomAD v4 |
12 | g.5045925A>T | CA383467204 | KCNA5 | c.1778A>T (p.Asn593Ile)
| |
12 | g.5045926C>A | CA6399945 | KCNA5 | c.1779C>A (p.Asn593Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045926C= | CA2013431461 | KCNA5 | c.1779C= (p.Asn593=)
| |
12 | g.5045926C>G | CA383467205 | KCNA5 | c.1779C>G (p.Asn593Lys)
| dbSNP gnomAD v4 |
12 | g.5045926C>T | CA6399946 | KCNA5 | c.1779C>T (p.Asn593=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045927G>A | CA6399948 | KCNA5 | c.1780G>A (p.Val594Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045927G>C | CA383467206 | KCNA5 | c.1780G>C (p.Val594Leu)
| gnomAD v4 |
12 | g.5045927G= | CA2013431462 | KCNA5 | c.1780G= (p.Val594=)
| |
12 | g.5045927G>T | CA6399947 | KCNA5 | c.1780G>T (p.Val594Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045927_5045928insCCAA | CA2013431463 | KCNA5 | c.1780_1781insCCAA (p.Val594AlafsTer?)
| dbSNP |
12 | g.5045928T>A | CA383467209 | KCNA5 | c.1781T>A (p.Val594Glu)
| |
12 | g.5045928T>C | CA383467208 | KCNA5 | c.1781T>C (p.Val594Ala)
| |
12 | g.5045928T>G | CA383467207 | KCNA5 | c.1781T>G (p.Val594Gly)
| dbSNP |
12 | g.5045928T= | CA2013431464 | KCNA5 | c.1781T= (p.Val594=)
| |
12 | g.5045929G>A | CA478095957 | KCNA5 | c.1782G>A (p.Val594=)
| dbSNP gnomAD v2 |
12 | g.5045929G>C | CA478095955 | KCNA5 | c.1782G>C (p.Val594=)
| |
12 | g.5045929G= | CA2013431465 | KCNA5 | c.1782G= (p.Val594=)
| |
12 | g.5045929G>T | CA478095956 | KCNA5 | c.1782G>T (p.Val594=)
| |
12 | g.5045930G>A | CA383467212 | KCNA5 | c.1783G>A (p.Asp595Asn)
| gnomAD v4 |
12 | g.5045930G>C | CA383467210 | KCNA5 | c.1783G>C (p.Asp595His)
| |
12 | g.5045930G>T | CA383467211 | KCNA5 | c.1783G>T (p.Asp595Tyr)
| gnomAD v4 |
12 | g.5045931A>C | CA383467213 | KCNA5 | c.1784A>C (p.Asp595Ala)
| |
12 | g.5045931A>G | CA383467214 | KCNA5 | c.1784A>G (p.Asp595Gly)
| |
12 | g.5045931A>T | CA383467215 | KCNA5 | c.1784A>T (p.Asp595Val)
| |
12 | g.5045932C>A | CA383467216 | KCNA5 | c.1785C>A (p.Asp595Glu)
| |
12 | g.5045932C= | CA2013431466 | KCNA5 | c.1785C= (p.Asp595=)
| |
12 | g.5045932C>G | CA383467217 | KCNA5 | c.1785C>G (p.Asp595Glu)
| |
12 | g.5045932C>T | CA478095959 | KCNA5 | c.1785C>T (p.Asp595=)
| dbSNP gnomAD v4 |
12 | g.5045933T>A | CA383467218 | KCNA5 | c.1786T>A (p.Leu596Met)
| |
12 | g.5045933T>C | CA478095961 | KCNA5 | c.1786T>C (p.Leu596=)
| |
12 | g.5045933T>G | CA383467219 | KCNA5 | c.1786T>G (p.Leu596Val)
| |
12 | g.5045934T>A | CA383467220 | KCNA5 | c.1787T>A (p.Leu596Ter)
| |
12 | g.5045934T>C | CA383467221 | KCNA5 | c.1787T>C (p.Leu596Ser)
| |
12 | g.5045934T>G | CA383467222 | KCNA5 | c.1787T>G (p.Leu596Trp)
| |
12 | g.5045935G>A | CA478095965 | KCNA5 | c.1788G>A (p.Leu596=)
| |
12 | g.5045935G>C | CA383467223 | KCNA5 | c.1788G>C (p.Leu596Phe)
| |
12 | g.5045935G= | CA2013431467 | KCNA5 | c.1788G= (p.Leu596=)
| |
12 | g.5045935G>T | CA383467224 | KCNA5 | c.1788G>T (p.Leu596Phe)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045935dup | CA2575052200 | KCNA5 | c.1788dup (p.Arg597AlafsTer30)
| |
12 | g.5045936C>A | CA478095967 | KCNA5 | c.1789C>A (p.Arg597=)
| ClinVar gnomAD v4 |
12 | g.5045936C= | CA2013431468 | KCNA5 | c.1789C= (p.Arg597=)
| |
12 | g.5045936C>G | CA383467225 | KCNA5 | c.1789C>G (p.Arg597Gly)
| |
12 | g.5045936C>T | CA6399949 | KCNA5 | c.1789C>T (p.Arg597Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045937G>A | CA6399950 | KCNA5 | c.1790G>A (p.Arg597Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045937G>C | CA383467226 | KCNA5 | c.1790G>C (p.Arg597Pro)
| dbSNP |
12 | g.5045937G= | CA2013431469 | KCNA5 | c.1790G= (p.Arg597=)
| |
12 | g.5045937G>T | CA383467227 | KCNA5 | c.1790G>T (p.Arg597Leu)
| dbSNP gnomAD v2 |
12 | g.5045938G>A | CA478095968 | KCNA5 | c.1791G>A (p.Arg597=)
| |
12 | g.5045938G>C | CA478095969 | KCNA5 | c.1791G>C (p.Arg597=)
| |
12 | g.5045938G>T | CA478095970 | KCNA5 | c.1791G>T (p.Arg597=)
| |
12 | g.5045939A>C | CA478095972 | KCNA5 | c.1792A>C (p.Arg598=)
| |
12 | g.5045939A>G | CA383467228 | KCNA5 | c.1792A>G (p.Arg598Gly)
| |
12 | g.5045939A>T | CA383467229 | KCNA5 | c.1792A>T (p.Arg598Trp)
| |
12 | g.5045940G>A | CA383467230 | KCNA5 | c.1793G>A (p.Arg598Lys)
| |
12 | g.5045940G>C | CA383467231 | KCNA5 | c.1793G>C (p.Arg598Thr)
| |
12 | g.5045940G>T | CA383467232 | KCNA5 | c.1793G>T (p.Arg598Met)
| COSMIC |
12 | g.5045941G>A | CA478095974 | KCNA5 | c.1794G>A (p.Arg598=)
| |
12 | g.5045941G>C | CA383467233 | KCNA5 | c.1794G>C (p.Arg598Ser)
| |
12 | g.5045941G>T | CA383467234 | KCNA5 | c.1794G>T (p.Arg598Ser)
| |
12 | g.5045942T>A | CA383467235 | KCNA5 | c.1795T>A (p.Ser599Thr)
| |
12 | g.5045942T>C | CA383467236 | KCNA5 | c.1795T>C (p.Ser599Pro)
| |
12 | g.5045942T>G | CA383467237 | KCNA5 | c.1795T>G (p.Ser599Ala)
| |
12 | g.5045943C>A | CA383467239 | KCNA5 | c.1796C>A (p.Ser599Tyr)
| |
12 | g.5045943C>G | CA383467240 | KCNA5 | c.1796C>G (p.Ser599Cys)
| COSMIC |
12 | g.5045943C>T | CA383467238 | KCNA5 | c.1796C>T (p.Ser599Phe)
| |
12 | g.5045943_5045944delinsGT | CA645578791 | KCNA5 | c.1796_1797delinsGT (p.Ser599Cys)
| COSMIC |
12 | g.5045944C>A | CA478095977 | KCNA5 | c.1797C>A (p.Ser599=)
| COSMIC |
12 | g.5045944C= | CA2013431470 | KCNA5 | c.1797C= (p.Ser599=)
| |
12 | g.5045944C>G | CA6399951 | KCNA5 | c.1797C>G (p.Ser599=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045944C>T | CA478095978 | KCNA5 | c.1797C>T (p.Ser599=)
| |
12 | g.5045945C>A | CA383467243 | KCNA5 | c.1798C>A (p.Leu600Ile)
| gnomAD v4 |
12 | g.5045945C>G | CA383467241 | KCNA5 | c.1798C>G (p.Leu600Val)
| |
12 | g.5045945C>T | CA383467242 | KCNA5 | c.1798C>T (p.Leu600Phe)
| |
12 | g.5045946T>A | CA383467244 | KCNA5 | c.1799T>A (p.Leu600His)
| |
12 | g.5045946T>C | CA383467245 | KCNA5 | c.1799T>C (p.Leu600Pro)
| |
12 | g.5045946T>G | CA383467246 | KCNA5 | c.1799T>G (p.Leu600Arg)
| |
12 | g.5045947T>A | CA478095982 | KCNA5 | c.1800T>A (p.Leu600=)
| |
12 | g.5045947T>C | CA478095983 | KCNA5 | c.1800T>C (p.Leu600=)
| |
12 | g.5045947T>G | CA478095981 | KCNA5 | c.1800T>G (p.Leu600=)
| |
12 | g.5045948T>A | CA383467247 | KCNA5 | c.1801T>A (p.Tyr601Asn)
| gnomAD v4 |
12 | g.5045948T>C | CA383467248 | KCNA5 | c.1801T>C (p.Tyr601His)
| |
12 | g.5045948T>G | CA383467249 | KCNA5 | c.1801T>G (p.Tyr601Asp)
| |
12 | g.5045949A= | CA2013431471 | KCNA5 | c.1802A= (p.Tyr601=)
| |
12 | g.5045949A>C | CA383467250 | KCNA5 | c.1802A>C (p.Tyr601Ser)
| |
12 | g.5045949A>G | CA383467251 | KCNA5 | c.1802A>G (p.Tyr601Cys)
| |
12 | g.5045949A>T | CA383467252 | KCNA5 | c.1802A>T (p.Tyr601Phe)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045950T>A | CA383467254 | KCNA5 | c.1803T>A (p.Tyr601Ter)
| |
12 | g.5045950T>C | CA478095987 | KCNA5 | c.1803T>C (p.Tyr601=)
| dbSNP gnomAD v4 |
12 | g.5045950T>G | CA383467253 | KCNA5 | c.1803T>G (p.Tyr601Ter)
| |
12 | g.5045950T= | CA2013431472 | KCNA5 | c.1803T= (p.Tyr601=)
| |
12 | g.5045951G>A | CA383467255 | KCNA5 | c.1804G>A (p.Ala602Thr)
| |
12 | g.5045951G>C | CA383467256 | KCNA5 | c.1804G>C (p.Ala602Pro)
| |
12 | g.5045951G>T | CA383467257 | KCNA5 | c.1804G>T (p.Ala602Ser)
| |
12 | g.5045952C>A | CA383467258 | KCNA5 | c.1805C>A (p.Ala602Asp)
| |
12 | g.5045952C>G | CA383467259 | KCNA5 | c.1805C>G (p.Ala602Gly)
| |
12 | g.5045952C>T | CA383467260 | KCNA5 | c.1805C>T (p.Ala602Val)
| gnomAD v4 |
12 | g.5045953C>A | CA478095991 | KCNA5 | c.1806C>A (p.Ala602=)
| |
12 | g.5045953C>G | CA478095992 | KCNA5 | c.1806C>G (p.Ala602=)
| gnomAD v4 |
12 | g.5045953C>T | CA478095994 | KCNA5 | c.1806C>T (p.Ala602=)
| |
12 | g.5045954C>A | CA383467261 | KCNA5 | c.1807C>A (p.Leu603Ile)
| |
12 | g.5045954C>G | CA383467262 | KCNA5 | c.1807C>G (p.Leu603Val)
| |
12 | g.5045954C>T | CA383467263 | KCNA5 | c.1807C>T (p.Leu603Phe)
| |
12 | g.5045955T>A | CA383467264 | KCNA5 | c.1808T>A (p.Leu603His)
| |
12 | g.5045955T>C | CA383467265 | KCNA5 | c.1808T>C (p.Leu603Pro)
| |
12 | g.5045955T>G | CA383467266 | KCNA5 | c.1808T>G (p.Leu603Arg)
| |
12 | g.5045956C>A | CA478095996 | KCNA5 | c.1809C>A (p.Leu603=)
| |
12 | g.5045956C>G | CA478095997 | KCNA5 | c.1809C>G (p.Leu603=)
| |
12 | g.5045956C>T | CA478095998 | KCNA5 | c.1809C>T (p.Leu603=)
| |
12 | g.5045957T>A | CA383467268 | KCNA5 | c.1810T>A (p.Cys604Ser)
| |
12 | g.5045957T>C | CA383467269 | KCNA5 | c.1810T>C (p.Cys604Arg)
| |
12 | g.5045957T>G | CA383467267 | KCNA5 | c.1810T>G (p.Cys604Gly)
| |
12 | g.5045958G>A | CA383467270 | KCNA5 | c.1811G>A (p.Cys604Tyr)
| |
12 | g.5045958G>C | CA383467271 | KCNA5 | c.1811G>C (p.Cys604Ser)
| |
12 | g.5045958G>T | CA383467272 | KCNA5 | c.1811G>T (p.Cys604Phe)
| gnomAD v4 |
12 | g.5045959C>A | CA383467273 | KCNA5 | c.1812C>A (p.Cys604Ter)
| |
12 | g.5045959C= | CA2013431473 | KCNA5 | c.1812C= (p.Cys604=)
| |
12 | g.5045959C>G | CA383467274 | KCNA5 | c.1812C>G (p.Cys604Trp)
| |
12 | g.5045959C>T | CA231869392 | KCNA5 | c.1812C>T (p.Cys604=)
| dbSNP |
12 | g.5045960C>A | CA383467275 | KCNA5 | c.1813C>A (p.Leu605Met)
| dbSNP |
12 | g.5045960C= | CA2013431474 | KCNA5 | c.1813C= (p.Leu605=)
| |
12 | g.5045960C>G | CA383467276 | KCNA5 | c.1813C>G (p.Leu605Val)
| dbSNP |
12 | g.5045960C>T | CA478096003 | KCNA5 | c.1813C>T (p.Leu605=)
| |
12 | g.5045961T>A | CA383467277 | KCNA5 | c.1814T>A (p.Leu605Gln)
| |
12 | g.5045961T>C | CA383467279 | KCNA5 | c.1814T>C (p.Leu605Pro)
| |
12 | g.5045961T>G | CA383467278 | KCNA5 | c.1814T>G (p.Leu605Arg)
| |
12 | g.5045962G>A | CA6399952 | KCNA5 | c.1815G>A (p.Leu605=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045962G>C | CA478096007 | KCNA5 | c.1815G>C (p.Leu605=)
| |
12 | g.5045962G= | CA2013431475 | KCNA5 | c.1815G= (p.Leu605=)
| |
12 | g.5045962G>T | CA478096008 | KCNA5 | c.1815G>T (p.Leu605=)
| gnomAD v4 |
12 | g.5045963G>A | CA383467280 | KCNA5 | c.1816G>A (p.Asp606Asn)
| dbSNP |
12 | g.5045963G>C | CA383467281 | KCNA5 | c.1816G>C (p.Asp606His)
| gnomAD v4 |
12 | g.5045963G= | CA2013431476 | KCNA5 | c.1816G= (p.Asp606=)
| |
12 | g.5045963G>T | CA383467282 | KCNA5 | c.1816G>T (p.Asp606Tyr)
| |
12 | g.5045964A= | CA2013431477 | KCNA5 | c.1817A= (p.Asp606=)
| |
12 | g.5045964A>C | CA383467283 | KCNA5 | c.1817A>C (p.Asp606Ala)
| ClinVar |
12 | g.5045964A>G | CA6399953 | KCNA5 | c.1817A>G (p.Asp606Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045964A>T | CA383467284 | KCNA5 | c.1817A>T (p.Asp606Val)
| |
12 | g.5045966_5045967del | CA2794382110 | KCNA5 | c.1819_1820del (p.Thr607GlnfsTer19)
| |
12 | g.5045965C>A | CA383467285 | KCNA5 | c.1818C>A (p.Asp606Glu)
| COSMIC |
12 | g.5045965C>G | CA383467286 | KCNA5 | c.1818C>G (p.Asp606Glu)
| |
12 | g.5045965C>T | CA478096015 | KCNA5 | c.1818C>T (p.Asp606=)
| |
12 | g.5045966A= | CA2013431478 | KCNA5 | c.1819A= (p.Thr607=)
| |
12 | g.5045966A>C | CA383467287 | KCNA5 | c.1819A>C (p.Thr607Pro)
| dbSNP |
12 | g.5045966A>G | CA383467288 | KCNA5 | c.1819A>G (p.Thr607Ala)
| |
12 | g.5045966A>T | CA383467289 | KCNA5 | c.1819A>T (p.Thr607Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045967C>A | CA383467290 | KCNA5 | c.1820C>A (p.Thr607Asn)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045967C= | CA2013431479 | KCNA5 | c.1820C= (p.Thr607=)
| |
12 | g.5045967C>G | CA383467291 | KCNA5 | c.1820C>G (p.Thr607Ser)
| |
12 | g.5045967C>T | CA383467292 | KCNA5 | c.1820C>T (p.Thr607Ile)
| dbSNP |
12 | g.5045968C>A | CA478096020 | KCNA5 | c.1821C>A (p.Thr607=)
| |
12 | g.5045968C>G | CA478096021 | KCNA5 | c.1821C>G (p.Thr607=)
| |
12 | g.5045968C>T | CA478096022 | KCNA5 | c.1821C>T (p.Thr607=)
| |
12 | g.5045969A>C | CA383467293 | KCNA5 | c.1822A>C (p.Ser608Arg)
| |
12 | g.5045969A>G | CA383467294 | KCNA5 | c.1822A>G (p.Ser608Gly)
| COSMIC |
12 | g.5045969A>T | CA383467295 | KCNA5 | c.1822A>T (p.Ser608Cys)
| |
12 | g.5045970G>A | CA383467298 | KCNA5 | c.1823G>A (p.Ser608Asn)
| dbSNP |
12 | g.5045970G>C | CA383467297 | KCNA5 | c.1823G>C (p.Ser608Thr)
| |
12 | g.5045970G= | CA2013431480 | KCNA5 | c.1823G= (p.Ser608=)
| |
12 | g.5045970G>T | CA383467296 | KCNA5 | c.1823G>T (p.Ser608Ile)
| |
12 | g.5045971C>A | CA383467299 | KCNA5 | c.1824C>A (p.Ser608Arg)
| |
12 | g.5045971C>G | CA383467300 | KCNA5 | c.1824C>G (p.Ser608Arg)
| |
12 | g.5045971C>T | CA478096025 | KCNA5 | c.1824C>T (p.Ser608=)
| |
12 | g.5045972C>A | CA231869403 | KCNA5 | c.1825C>A (p.Arg609=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045972C= | CA2013431481 | KCNA5 | c.1825C= (p.Arg609=)
| |
12 | g.5045972C>G | CA383467301 | KCNA5 | c.1825C>G (p.Arg609Gly)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045972C>T | CA383467302 | KCNA5 | c.1825C>T (p.Arg609Trp)
| |
12 | g.5045973G>A | CA231869404 | KCNA5 | c.1826G>A (p.Arg609Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045973G>C | CA383467303 | KCNA5 | c.1826G>C (p.Arg609Pro)
| ClinVar dbSNP |
12 | g.5045973G= | CA2013431482 | KCNA5 | c.1826G= (p.Arg609=)
| |
12 | g.5045973G>T | CA383467304 | KCNA5 | c.1826G>T (p.Arg609Leu)
| |
12 | g.5045974G>A | CA478096032 | KCNA5 | c.1827G>A (p.Arg609=)
| dbSNP |
12 | g.5045974G>C | CA478096033 | KCNA5 | c.1827G>C (p.Arg609=)
| |
12 | g.5045974G= | CA2013431483 | KCNA5 | c.1827G= (p.Arg609=)
| |
12 | g.5045974G>T | CA478096034 | KCNA5 | c.1827G>T (p.Arg609=)
| |
12 | g.5045975G>A | CA123128 | KCNA5 | c.1828G>A (p.Glu610Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045975G>C | CA383467305 | KCNA5 | c.1828G>C (p.Glu610Gln)
| |
12 | g.5045975G= | CA2013431484 | KCNA5 | c.1828G= (p.Glu610=)
| |
12 | g.5045975G>T | CA383467306 | KCNA5 | c.1828G>T (p.Glu610Ter)
| |
12 | g.5045976A= | CA2013431485 | KCNA5 | c.1829A= (p.Glu610=)
| |
12 | g.5045976A>C | CA383467307 | KCNA5 | c.1829A>C (p.Glu610Ala)
| |
12 | g.5045976A>G | CA6399954 | KCNA5 | c.1829A>G (p.Glu610Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045976A>T | CA383467308 | KCNA5 | c.1829A>T (p.Glu610Val)
| dbSNP gnomAD v2 |
12 | g.5045977A>C | CA383467309 | KCNA5 | c.1830A>C (p.Glu610Asp)
| |
12 | g.5045977A>G | CA478096037 | KCNA5 | c.1830A>G (p.Glu610=)
| |
12 | g.5045977A>T | CA383467310 | KCNA5 | c.1830A>T (p.Glu610Asp)
| |
12 | g.5045978A>C | CA383467313 | KCNA5 | c.1831A>C (p.Thr611Pro)
| |
12 | g.5045978A>G | CA383467311 | KCNA5 | c.1831A>G (p.Thr611Ala)
| |
12 | g.5045978A>T | CA383467312 | KCNA5 | c.1831A>T (p.Thr611Ser)
| |
12 | g.5045979C>A | CA6399955 | KCNA5 | c.1832C>A (p.Thr611Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045979C= | CA2013431486 | KCNA5 | c.1832C= (p.Thr611=)
| |
12 | g.5045979C>G | CA383467314 | KCNA5 | c.1832C>G (p.Thr611Arg)
| dbSNP |
12 | g.5045979C>T | CA383467315 | KCNA5 | c.1832C>T (p.Thr611Ile)
| gnomAD v4 |
12 | g.5045980A>C | CA478096041 | KCNA5 | c.1833A>C (p.Thr611=)
| |
12 | g.5045980A>G | CA478096042 | KCNA5 | c.1833A>G (p.Thr611=)
| gnomAD v4 |
12 | g.5045980A>T | CA478096043 | KCNA5 | c.1833A>T (p.Thr611=)
| |
12 | g.5045981G>A | CA383467316 | KCNA5 | c.1834G>A (p.Asp612Asn)
| gnomAD v4 |
12 | g.5045981G>C | CA383467317 | KCNA5 | c.1834G>C (p.Asp612His)
| |
12 | g.5045981G>T | CA383467318 | KCNA5 | c.1834G>T (p.Asp612Tyr)
| |
12 | g.5045982A>C | CA383467319 | KCNA5 | c.1835A>C (p.Asp612Ala)
| |
12 | g.5045982A>G | CA383467320 | KCNA5 | c.1835A>G (p.Asp612Gly)
| |
12 | g.5045982A>T | CA383467321 | KCNA5 | c.1835A>T (p.Asp612Val)
| |
12 | g.5045983T>A | CA383467322 | KCNA5 | c.1836T>A (p.Asp612Glu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045983T>C | CA478096046 | KCNA5 | c.1836T>C (p.Asp612=)
| dbSNP gnomAD v4 |
12 | g.5045983T>G | CA383467323 | KCNA5 | c.1836T>G (p.Asp612Glu)
| |
12 | g.5045983T= | CA2013431487 | KCNA5 | c.1836T= (p.Asp612=)
| |
12 | g.5045984T>A | CA383467324 | KCNA5 | c.1837T>A (p.Leu613Met)
| |
12 | g.5045984T>C | CA478096047 | KCNA5 | c.1837T>C (p.Leu613=)
| |
12 | g.5045984T>G | CA383467325 | KCNA5 | c.1837T>G (p.Leu613Val)
| dbSNP |
12 | g.5045985T>A | CA6399956 | KCNA5 | c.1838T>A (p.Leu613Ter)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.5045985T>C | CA383467327 | KCNA5 | c.1838T>C (p.Leu613Ser)
| |
12 | g.5045985T>G | CA383467326 | KCNA5 | c.1838T>G (p.Leu613Trp)
| |
12 | g.5045985T= | CA2013431488 | KCNA5 | c.1838T= (p.Leu613=)
| |
12 | g.5045986G>A | CA478096051 | KCNA5 | c.1839G>A (p.Leu613=)
| |
12 | g.5045986G>C | CA383467328 | KCNA5 | c.1839G>C (p.Leu613Phe)
| dbSNP |
12 | g.5045986G>T | CA383467329 | KCNA5 | c.1839G>T (p.Leu613Phe)
| |
12 | g.5045987T>A | CA231869412 | KCNA5 | c.1840T>A (p.Ter614Arg)
| dbSNP |
12 | g.5045987T>C | CA383467330 | KCNA5 | c.1840T>C (p.Ter614Arg)
| |
12 | g.5045987T>G | CA383467331 | KCNA5 | c.1840T>G (p.Ter614Gly)
| |
12 | g.5045987T= | CA2013431489 | KCNA5 | c.1840T= (p.Ter614=)
| |
12 | g.5045988G>A | CA478096054 | KCNA5 | c.1841G>A (p.Ter614=)
| gnomAD v4 |
12 | g.5045988G>C | CA383467332 | KCNA5 | c.1841G>C (p.Ter614Ser)
| |
12 | g.5045988G>T | CA383467333 | KCNA5 | c.1841G>T (p.Ter614Leu)
| |
12 | g.5045989A>C | CA383467334 | KCNA5 | c.1842A>C (p.Ter614Cys)
| |
12 | g.5045989A>G | CA383467335 | KCNA5 | c.1842A>G (p.Ter614Trp)
| gnomAD v4 |
12 | g.5045989A>T | CA383467336 | KCNA5 | c.1842A>T (p.Ter614Cys)
| |
12 | g.5045990A= | CA2013431490 | KCNA5 | c.*1A= (n.*1A=)
| |
12 | g.5045990A>C | CA2617209929 | KCNA5 | c.*1A>C (n.*1A>C)
| gnomAD v4 |
12 | g.5045990A>G | CA6399957 | KCNA5 | c.*1A>G (n.*1A>G)
| dbSNP ExAC gnomAD v2 |
12 | g.5045992G>A | CA2617209930 | KCNA5 | c.*3G>A (n.*3G>A)
| gnomAD v4 |
12 | g.5045992G>C | CA603482596 | KCNA5 | c.*3G>C (n.*3G>C)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045992G= | CA2013431491 | KCNA5 | c.*3G= (n.*3G=)
| |
12 | g.5045993G>C | CA6399958 | KCNA5 | c.*4G>C (n.*4G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045993G= | CA2013431492 | KCNA5 | c.*4G= (n.*4G=)
| |